ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1308208121
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.173348166G= , CM000664.2:g.173348166G=
GRCh38
NC_000002.11:g.174212894G= , CM000664.1:g.174212894G=
GRCh37
NC_000002.10:g.173921140G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000437243.1:n.42+8001C=
Search 100 bp 5'
Search 100 bp 3'