ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645386543
Gene: DNAAF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
262941
ClinVar RCV Id:
RCV000250607
RCV000476717
RCV001120554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_848547.4:p.Pro499Leu
CA8202873
NM_178452.6:c.1496C>T