ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766815
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1745975
ClinVar RCV Id:
RCV002338567
RCV003096648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Phe3988Ser
CA1715393
NM_001378454.1:c.11963T>C