ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693466
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112190
RCV003157376
RCV003644883
ClinVar Variation:
55011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asn1221Ser
CA002449
NM_007297.4:c.3662A>G