ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829693800
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409324
ClinVar RCV Id:
RCV000467656
RCV001021457
RCV001778964
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr1263Ile
CA059114
NM_007297.4:c.3788C>T