ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645448697
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000484359
RCV000637764
RCV001012565
RCV004003357
ClinVar Variation:
421571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asn550Ser
CA10598737
NM_007294.4:c.1649A>G