ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997139
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54374
ClinVar RCV Id:
RCV000111702
RCV001308727
RCV003157338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu624Lys
CA001215
NM_007300.4:c.1870G>A