ClinGen Allele Registry
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Canonical Allele Identifier:
CA2481200208
Gene: MTX1LP
HGNC
NCBI
Linked Data - NCBI & NCI
dbSNP:
1045253
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.155231444G>C , CM000663.2:g.155231444G>C
GRCh38
NC_000001.10:g.155201235G>C , CM000663.1:g.155201235G>C
GRCh37
NC_000001.9:g.153467859G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000440904.1:n.115+223G>C
Search 100 bp 5'
Search 100 bp 3'