ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829197534
Gene: CRTAP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
433464
ClinVar RCV:
RCV000506973
RCV000766891
RCV000999850
RCV002279286
RCV003935325
ClinVar Variation:
439559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001380293.1:p.Leu304Phe
CA2300475
NM_001393364.1:c.910C>T