ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766342
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449854
ClinVar RCV Id:
RCV000524071
RCV001255513
RCV000803220
RCV002420308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Thr3592Ala
CA1715057
NM_001378454.1:c.10774A>G