ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828765409
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499776
ClinVar RCV Id:
RCV000595220
RCV000794425
RCV001175497
RCV002438538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Ile2787Val
CA1714456
NM_001378454.1:c.8359A>G