ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828765593
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
337026
ClinVar RCV Id:
RCV000275102
RCV003910303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Asp2939Gly
CA10614378
NM_001378454.1:c.8816A>G