ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829690856
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54507
ClinVar RCV Id:
RCV000047767
RCV000111802
RCV000216743
RCV001719801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser694Phe
CA001491
NM_007297.4:c.2081C>T