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ClinGen Allele Registry
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Canonical Allele Identifier:
CA1140136215
Community Standard Title: NM_175710.2(CR1L):c.1143-244T=
Gene: CR1L
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.207698945T= , CM000663.2:g.207698945T=
GRCh38
NC_000001.10:g.207872290T= , CM000663.1:g.207872290T=
GRCh37
NC_000001.9:g.205938913T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NM_175710.2:c.1143-244T=
MANE Select
NP_783641.1:n.1143-244T=
ENST00000508064.7:c.1143-244T=
MANE Select
ENSP00000421736.2:n.1143-244T=
NM_175710.1:c.1143-244T=
NP_783641.1:n.1143-244T=
ENST00000294997.10:c.975-244T=
ENSP00000434864.1:n.975-244T=
ENST00000508064.6:c.1143-244T=
ENSP00000421736.2:n.1143-244T=
ENST00000530905.1:n.494-11437T=
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