ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828765890
Gene: ALMS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000595407
RCV000664857
RCV002377234
ClinVar Variation:
499779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Ser3197Thr
CA1714705
NM_001378454.1:c.9589T>A