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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139669082
Gene: ABCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
859830
ClinVar RCV Id:
RCV001066031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000024.2:p.Gln177Leu
CA415099045
NM_000033.4:c.530A>T