ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766827
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
337035
ClinVar RCV Id:
RCV000282897
RCV003401358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Pro4000Ser
CA1715399
NM_001378454.1:c.11998C>T