ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998628
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419626
ClinVar RCV Id:
RCV000482849
RCV000541701
RCV001016662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Pro938Leu
CA10596364
NM_007300.4:c.2813C>T