ClinGen Allele Registry
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Canonical Allele Identifier:
CA199525746
Gene: PDCL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.122810751A>G , CM000671.2:g.122810751A>G
GRCh38
NC_000009.11:g.125573030A>G , CM000671.1:g.125573030A>G
GRCh37
NC_000009.10:g.124612851A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000436632.5:c.254-12212T>C
Search 100 bp 5'
Search 100 bp 3'