ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829709844
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000047383
RCV000111820
RCV000484980
RCV000569789
ClinVar Variation:
54166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.His41Arg
CA000805
NM_007299.4:c.122A>G